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AStarix: Fast and Optimal Sequence-to-Graph Aligner

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AStarix
SRILAB


License: MPL 2.0

AStarix is a sequence-to-graph semi-global aligner based on A* shortest path algorithm. It supports general graphs and finds alignments that are optimal according to edit-distance with non-negative weights.

A preprint using AStarix has been accepted to RECOMB2020. Evaluation scripts are available in the RECOMB2020_experiments branch.

Using Docker

You can try out AStarix using Docker.

# run docker daemon if not running already
sudo dockerd
# set up prerequisites, clone and build the current repository and test it
sudo docker build -t astarix .
# interactively run a new container for further work
sudo docker run -it --rm --name astarix-container astarix

Manual install

Alternatively to using Docker, you can install AStarix directly on your system.

Prerequisites

In order to compile AStarix, you will need to first install:

  • argp – argument parsing library
  • (optional) pandas – dataframe library used for testing and evalutaions

We show how to install them in the Dockerfile. Other third-party libraries are located in the /ext directory and their own licenses apply.

Compile and test

make
make test

Example run

This is an example run of AStarix on a toy data: aligning 100 simulated Illumina reads to a linear graph from the first 10000bp of Escherichia coli. You can expect a similar summary printed to standard output:

$ bin/astarix align-optimal -g data/ecoli_head10000_linear.gfa -q data/illumina.fq -o tmp/astar-default
Reading queries...
Precomputation...
Aligning...

       == Input ==
              Queries/reads: 100 read in 0.00s
Graph nodes, edges, density: 50146, 69774, 0
           Reading run time: 0.00s
       == General parameters and optimizations == 
             Alignment algo: astar-prefix
                 Edit costs: 0.00, 1.00, 5.00, 5.00 (match, subst, ins, del)
                    Threads: 1
              Greedy match?: true
       == Aligning statistics ==
                      Reads: 100 x 100bp
          Aligning run time: 0.10s (A*: 30.10%, que: 6.03%, dicts: 20.95%, greedy_match: 17.34%)
                Performance: 1049.68 reads/s, 102.51 Kbp/s
   Explored rate (avg, max): 0.89, 2.41    [states/bp] (states normalized by query length)
     Expand rate (avg, max): 0.13, 0.31
       == A* parameters ==
                   Cost cap: 5.00
   Upcoming seq. length cap: 5
      Nodes equiv. classes?: true
  Compressible equiv. nodes: 37049 (73.88%)
    Precomputation run time: 0.03s
                     Memory: 0.11 GB (graph: 0.91%, A*-memoization: <0.01% for 8444 entries)
       Memoization hit rate: 3.50%

The directory output_dir/ will contain a file with execution logs and a file with alignment statistics. Short aggregated statistics are print to standard output (to redirect, you can add >output_dir/summary.txt).

Usage

AStarix currently works only in exact/optimal mode (specified using align-optimal). Currently supported formats are .gfa without overlapping nodes (for a graph reference) and .fa/.fasta (for a linear reference). The queries should be in .fq/.fastq format (the phred values are ignored). Tested on Ubuntu 18.04.

$ ./bin/astarix --help
Usage: astarix [OPTION...] align-optimal -g GRAPH.gfa -q READS.fq -o OUT_DIR/
Optimal sequence-to-graph aligner based on A* shortest path.

  -a, --algorithm={dijkstra, astar-prefix}
                             Shortest path algorithm
  -c, --astar_cost_cap=A*_COST_CAP
                             The maximum prefix cost for the A* heuristic
  -d, --astar_len_cap=A*_PREFIX_CAP
                             The upcoming sequence length cap for the A*
                             heuristic
  -D, --tree_depth=TREE_DEPTH   Suffix tree depth
  -e, --astar_equivalence_classes=A*_EQ_CLASSES
                             Whether to partition all nodes to equivalence
                             classes in order not to reuse the heuristic
  -f, --greedy_match=GREEDY_MATCH
                             Proceed greedily forward if there is a unique
                             matching outgoing edge
  -g, --graph=GRAPH          Input graph (.gfa)
  -G, --gap=GAP_COST         Gap (Insertion or Deletion) penalty
  -M, --match=MATCH_COST     Match penalty
  -o, --outdir=OUTDIR        Output directory
  -q, --query=QUERY          Input queries/reads (.fq, .fastq)
  -S, --subst=SUBST_COST     Substitution penalty
  -t, --threads=THREADS      Number of threads (default=1)
  -v, --verbose=THREADS      Verbosity (default=silent=0, info=1, debug=2)
  -?, --help                 Give this help list
      --usage                Give a short usage message
  -V, --version              Print program version

Technical details

AStarix computes an A* heuristic function h that directs the path search faster by anticipating the upcoming nucleotides to be aligned. Once computed, a value of h is memoized in a hash table (parallel-hashmap).

AStarix parallelizes the alignment of a set of reads.

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AStarix: Fast and Optimal Sequence-to-Graph Aligner

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